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Amnio reduction/ genetic conditions

(10 Posts)
Robs20 Fri 21-Feb-20 16:39:25

Posted this in pregnancy but thought I might get more responses here...

Help....have just seen consultant and fluid around twin A had dramatically increased (deepest pool is now 16) so I now need to have around 1L drained on Monday. They are going to send a sample for genetic testing.

Has anyone had this done and had a positive outcome (or any outcome I guess. I have been looking up genetic conditions but can’t see what it could be). It seems inevitable there will be a genetic problem.

OP’s posts: |
2020babym Tue 25-Feb-20 21:08:07

@robs20 hi there.
Hope you are doing ok. Didn't want to read and run. Excess Amnio fluid is called Polyhydramnios - maybe have a look on the NHS website for this and see what is says. It doesn't always mean genetic condition but of course we can't rule that out completely, so just try and stay positive.

Im going through something similar at the moment. I'm 24 weeks and my boy has been diagnosed with a bilateral cleft lip and palate. His stomach is also measuring far too small for his age, so he either has trouble swallowing fluid Cos of the palate, or he may have an oesphegeal atresia. Because of both of these indications, I had an Amnio but it came back all clear. However Both of these two things could mean that my Amnio fluid could also increase throughout the pregnancy. Levels have been normal so far but have got another scan tomorrow.

Thinking of youthanks

Robs20 Tue 25-Feb-20 22:07:54

@2020babym sorry you are going through complications too. It sounds crazy but I was hoping there might be a structural reason for the high fluid (baby not swallowing because of an obstruction etc.) because I think this is relatively easily fixed.

The lack of explanation scares me. The consultant has no idea as everything else looks normal. I have seen the worst of genetic conditions (dd1 had one and died last year) so I think I am programmed to assume the worst.

At the moment the drs seem most concerned about preventing premature labour which hadn’t even crossed my mind as I was/ am so worried about what the problem is. I didn’t have the fluid drained on mon - it is still severe but has stabilised so I am going back on Thursday. It is a case of balancing the risk of prem labour from the draining/ prem labour from not draining!

Good luck with the scan tomorrow. Please let me know how you get on. Hope it goes well smile

OP’s posts: |
2020babym Wed 26-Feb-20 00:46:35

@robs20 I know what you mean but your excess fluid could be something minor at this stage, particularly if there's nothing structurally wrong with the baby that they can see? We were told by our consultant that it was highly likely our baby had trisomy 18 (they also thought he had a hernia in his diaphragm) so we were so devastated. But the results came back clear which surprised everyone and then the baby's prognosis has started to get better after seeing a more senior consult and surgeon, as the oesophageal atresia is still a major thing and not a "quick fix" say. But they still aren't 100% sure if he has it or not.

So sorry to hear about your previous loss thanks was it from a similar pregnancy complication?

How many weeks are you now? Preterm Labour is quite common in multiple pregnancies I think? With or without problems. Keeping everything crossed for you. Try not to panic until they give you some definitive results and your Amnio result is the next step thanks

Robs20 Wed 26-Feb-20 08:51:00

@2020babym that sounds like a rollercoaster! You must feel so relieved about T18. Sorry if I sounded flippant about structural things being easy to fix, I didn’t mean it in that way, just that the thought if it being something fixable as opposed to a serious life long genetic condition is better (for me).

I’m 28+5 today. Dd1 had an undiagnosed condition - easy pregnancy apart from PE at the end but it was only when she was born that drs realised there was a problem. Bizarrely this baby looks to have something else (if anything) as he displays completely different issues. Dd1 had no issues on scans so I don’t think I will relax until these babies are born!

I’m trying to stay relaxed and remind myself that there is nothing I can do to change this. Good luck with the scan today. I hope things continue to look positive smile

OP’s posts: |
2020babym Thu 12-Mar-20 13:00:30

@robs20 hi so sorry for not replying sooner I've been off mumsnet for a while and fell Behind on messages. How're you doing? Have you had anymore information?

I had an MRI Tuesday to confirm whether or not baby has oesophageal atresia. At the moment all we do know is that he has a cleft lip, and his stomach bubble is still v small xx

Robs20 Thu 12-Mar-20 14:31:44

@2020babym don’t worry! When do you get the results? I had an mri 2 weeks ago and still haven’t heard anything. I found it SO uncomfortable and cried in the scanner! Do you know what is next for you?

I don’t know anything more apart from I had my last cardiac check this week and everything looked fine. They could now check for signs of dd’s condition and thankfully both babies look ok.

At the moment the doctor’s priority is still keeping the babies in. I am going back every 3 days to check the fluid level and they say every time they might drain it next time and if so will give me steroids just in case. If nothing happens (fingers crossed) I will have a c section at 36 weeks....5 weeks and 1 day to go so just hoping for no drama between now and then.

OP’s posts: |
2020babym Thu 12-Mar-20 15:01:29

@robs20 omg I was exactly the same!! I was so uncomfortable I literally had tears down my face! And at one point he wouldn't stop moving so they had to do one of the scans again which made it take longer!

Wow that's a long time for the results - which hospital did you have it? I have a follow up scan next week with Fetal medicine where they're hoping to have the results, if I have to wait another week that'll be v annoying.

So aside from the excess fluid on one baby both babies are looking normal etc with normal function? Hopefully that's a v good sign then!

Robs20 Thu 12-Mar-20 15:22:54

@2020babym I’m at St Thomas’ in London. Apparently the scans need to be reviewed by 2 consultant radiographers (I think) and one is off. My normal consultant said no news is good news but they should know by my appt on Monday.

Apart from the Polyhydramnios, the same twin had higher NT too. Apart from that, everything looks ok.......

OP’s posts: |
2020babym Thu 12-Mar-20 15:39:47

@Robs20 ah ok i was at St Thomas too for MRI but all antenatal care is outside of London as I'm not local to London (except for the FMU scans etc.)

Really hope you get some answers on Monday thanks

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